Clinical Indication ID & Name
Segmental overgrowth disorders - Deep sequencing
Test Group
Dermatology
Specialties
Test code
R110.1
Test name
N/A
Target genes
Segmental overgrowth disorders (98)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features suggestive of a segmental overgrowth disorder. Features may include:
1. Congenital or early onset segmental overgrowth (which may affect the brain only, i.e. megalencephaly)
2. Confirmed Vascular malformations (capillary, venous, lymphatic or combinations) following discussion with a specialist
3. Characteristic cutaneous features (for example epidermal naevi or connective tissue naevi)
4. Brain malformations (for example hydrocephalus or cortical malformations)
5. Additional dysmorphism (for example polydactyly)
Test code
R110.2
Test name
N/A
Target genes
Segmental overgrowth disorders (98)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features suggestive of a segmental overgrowth disorder. Features may include:
1. Congenital or early onset segmental overgrowth (which may affect the brain only, i.e. megalencephaly)
2. Confirmed Vascular malformations (capillary, venous, lymphatic or combinations) following discussion with a specialist
3. Characteristic cutaneous features (for example epidermal naevi or connective tissue naevi)
4. Brain malformations (for example hydrocephalus or cortical malformations)
5. Additional dysmorphism (for example polydactyly)
Commissioning group
Specialised
Overlapping idications
R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be considered in overlapping features are present but germline mutation is considered likely
Address for samples/request forms
Witihin working hours:
South East GLH
Genetics Specimen Reception
5th floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Outside of working hours:
Central Specimen Reception
4th floor Southwark Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
gst.tr-southeastglh.nhs.net
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old